NCT00055172

Brief Summary

This study will examine the role of hereditary factors in different forms of severe combined immunodeficiency (SCID). Patients with immunodeficiencies may be eligible for this study. Candidates include:

  • Patients with diminished numbers of T cells or NK cells or both, or
  • Patients with normal T cell and NK cell numbers but diminished T cell, B cell, or NK cell function. Relatives of patients will also be studied. Participants will have blood samples collected for genetic analysis in studies related to SCID at the National Institutes of Health and other institutions.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
100

participants targeted

Target at P50-P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 20, 2003

Completed
Same day until next milestone

First Posted

Study publicly available on registry

February 20, 2003

Completed
1.1 years until next milestone

Study Start

First participant enrolled

April 5, 2004

Completed
Last Updated

May 7, 2026

Status Verified

December 4, 2025

First QC Date

February 20, 2003

Last Update Submit

May 6, 2026

Conditions

Severe Combined Immunodeficiency

Keywords

CytokinesInherited ImmunodeficiencyNatural History

Outcome Measures

Primary Outcomes (1)

  • To identify forms of inherited immunodeficiency resulting from mutation of yc dependent cytokines, components of their receptors, or signaling molecules in their pathways

    In an effort to determine the cause of the immunodeficiency, we will perform studies that may include but not be limited to evaluating the levels of expression of protein and/or mRNA, obtaining DNA sequence data, performing epigenetic studies, and evaluating biological function using cellular, biochemical, or other molecular studies.

    ongoing

Study Arms (3)

Non-sibling relative

18 years of age or older

Patients (index cases)

Patients (index cases), 6 months of age or older

Siblings

Siblings, 6 months of age or older

Eligibility Criteria

Age6 Months - 99 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Primary clinical

You may qualify if:

  • Index cases to be included are those with diminished numbers of T cells and/or NK cells and/or B cells or other immune cells or those who have normal numbers of T cell, B cells, NK cells and other immune cells but diminished function of one or more immune cells. Relatives of affected individuals may also be studied
  • Patients (index cases): 6 months of age and older
  • Siblings: 6 months of age and older
  • Non-sibling relatives (biological parent, aunt, uncle or grandparent): 18 years or older

You may not qualify if:

  • Patients with a known diagnosis
  • Patients with a particular immunological phenotype that is not of interest to the research conducted under this study.
  • Pregnancy or lactation
  • Adults with current decisional impairment

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (3)

  • Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993 Apr 9;73(1):147-57. doi: 10.1016/0092-8674(93)90167-o.

    PMID: 8462096BACKGROUND

  • Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, Migone TS, Noguchi M, Markert ML, Buckley RH, O'Shea JJ, Leonard WJ. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science. 1995 Nov 3;270(5237):797-800. doi: 10.1126/science.270.5237.797.

    PMID: 7481768BACKGROUND

  • Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet. 1998 Dec;20(4):394-7. doi: 10.1038/3877.

    PMID: 9843216BACKGROUND

Related Links

MeSH Terms

Conditions

Severe Combined Immunodeficiency

Condition Hierarchy (Ancestors)

Primary Immunodeficiency DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesInfant, Newborn, DiseasesDNA Repair-Deficiency DisordersMetabolic DiseasesNutritional and Metabolic DiseasesImmunologic Deficiency SyndromesImmune System Diseases

Study Officials

  • Warren J Leonard, M.D.

    National Heart, Lung, and Blood Institute (NHLBI)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Warren J Leonard, M.D.

CONTACT

(301) 496-0098wl2w@nih.gov

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
CROSS SECTIONAL
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 20, 2003

First Posted

February 20, 2003

Study Start

April 5, 2004

Last Updated

May 7, 2026

Record last verified: 2025-12-04

Locations

US(1)